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Related Concept Videos

Mutations

Mutations

Mutations

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

Translation

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...

Translation

Translation

Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...

Nucleotide Excision Repair

Nucleotide Excision Repair

DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...

Nucleotide Excision Repair

Nucleotide Excision Repair

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ARID1B-mediated disorders: Mutations and possible mechanisms.

Joe C H Sim¹, Susan M White², Paul J Lockhart²

¹Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia;

Intractable & Rare Diseases Research

|February 13, 2015

Summary

Mutations in the AT-rich interactive domain-containing protein 1B (ARID1B) gene cause developmental delays. Reduced ARID1B protein impairs brain development, leading to intellectual disability and speech issues.

Keywords:

ARID1B mutation Coffin-Siris syndrome Intellectual disability cell cycle chromatin remodelling haploinsufficiency

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Area of Science:

Genetics
Neuroscience
Molecular Biology

Background:

Mutations in the ARID1B gene are linked to developmental delay, intellectual disability, and related syndromes.
ARID1B is a DNA-binding subunit of chromatin remodeling complexes essential for gene regulation.
The neuron-specific complex involving ARID1B regulates neural stem/progenitor cell differentiation.

Purpose of the Study:

To review the role of ARID1B in neurodevelopmental disorders.
To elucidate the pathogenic mechanisms of ARID1B haploinsufficiency.
To understand how impaired neural development contributes to associated clinical features.

Main Methods:

Literature review of studies on ARID1B mutations and neurodevelopment.
Analysis of ARID1B's function in chromatin remodeling and neural differentiation.
Examination of cell cycle alterations in fibroblasts from affected individuals.

Main Results:

ARID1B mutations primarily lead to haploinsufficiency, impacting gene activity.
ARID1B is crucial for the differentiation of neural progenitor cells.
Cell cycle dysregulation is implicated in the pathogenesis of ARID1B-related disorders.

Conclusions:

ARID1B plays a critical role in normal brain development.
Reduced wild-type ARID1B protein levels compromise neurodevelopment.
Further research is needed to clarify the mechanisms linking impaired neural development to intellectual disability and speech impairment.